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Medical Genetics > Disease Review for FINAL > Flashcards

Disease Review for FINAL Flashcards

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Biology 101 flashcards USMLE® Step 1 flashcards
1
Q

Cystic Fibrosis

A

AR, CFTR mutation, modifier genes, Caucasian prevalence

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2
Q

Sickle Cell Anemia

A

AR, heterozygote advantage, African prevalence

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3
Q

Thalassemia

A

AR, heterozygote advantage, Mediterranean prevalence

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4
Q

Xeroderma Pigmentosum

A

AR, DNA repair error

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5
Q

Spinal Muscular Atrophy

A

AR, muscle wasting, “frog leg position”

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6
Q

PKU

A

AR, pleiotrophy

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7
Q

Tay Sachs

A

AR, Ashkenazi prevalence, “cherry red spot”

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8
Q

Achondroplasia

A

AD, Paternal age effect, de novo mutations high

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9
Q

Alzheimer Disease

A

AD, also multifactorial, HLA associations

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10
Q

Hereditary Breast and Ovarian Cancer

A

AD, BRCA 1 and 2 gene mutations, DNA repair error, Founder effect (Ashkenazis)

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11
Q

Familial Hypercholesterolemia

A

AD, LDL receptor mutation, cornea and tendon xanthomas

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12
Q

Hereditary Nonpolyposis Colon Cancer

A

AD, Microsatellite instability, DNA repair error, germline and somatic mutations involved

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13
Q

Holoprosencephaly

A

AD, SHH mutation

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14
Q

Huntington Disease

A

AD, Tri-nucleotide repeats, anticipation

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15
Q

Marfan Syndrome

A

AD, Dominant negative mutation, FBN1 gene (microfibrils, fibrillin-1), variable expressivity homocystinuria presents with similar phenotype (locus hetero), usually have ocular, skeletal and cardio system implications

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16
Q

Retinoblastoma

A

AD, Tumor suppressor mutation, two-hit hypothesis, ↑ severity with inherited mutation than somatically gained mutations

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17
Q

Neurofibromatosis

A

AD, “café au lait” spots, De novo mutations

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18
Q

Familial Adenomatous Polyposis

A

AD, Risk of colon cancer

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19
Q

Osteogenesis Imperfecta

A

AD, Type 1 collagen mutation, COL1A1 and COL1A2 genes, blue sclera, mostly dominant negative mutations

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20
Q

Fragile X syndrome

A

X-linked, Trinucleotide repeats, anticipation

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21
Q

Duchene Muscular Dystrophy

A

X-linked, Females with varying expressivity due to random X inactivation (skewing)

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22
Q

Deafness

A

AR or AD, locus heterogeneity (2 deaf parents can have non deaf children that are compound heterozygotes)

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23
Q

Trisomy 18

A

i. Congenital malformations
ii. Clenched hand
iii. Hypotonia
iv. High risk of wilms tumors

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24
Q

Trisomy 13

A

i. Microcephaly, holoprosencephaly, microphtalmia

ii. Polydactyly

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25
Q

Trisomy 21

A

i. Hypotonia
ii. Single palmar crease*
iii. CHD
iv. Extra nuchal folds*
v. Lots of Robersonian Translocations

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26
Q

Cri du Chat

A

i. Deletion
ii. Microcephaly
iii. Weak, cat like cry
iv. Karyotype or FISH

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27
Q

Angelman

A

i. Microdeletion of maternal 15q
ii. Genomic imprinting
iii. Contiguous gene syndrome

28
Q

Prader Willi

A

i. Microdeletion of paternal 15q
ii. Genomic imprinting
iii. Contiguous gene syndrome

29
Q

Turner Syndrome

A

i. 45, X
ii. NOT related to maternal age/caused by non-disjunction
iii. Nuchal folds, webbed neck, widely spaced nipples
iv. Coarctation of aorta

30
Q

Klinefelter

A

i. XXY

ii. Small testicles, tall stature, gynecomastia, learning disabilities

31
Q

XXY Male

A

i. Radial-ulnar synostosis

32
Q

Myoclonic Epilepsy w/ Red Ragged Fibers

A

i. Mitochondrial DNA inheritance

ii. Biopsy red ragged fibers

33
Q

Rett Syndrome

A

i. De novo mutation
ii. Occurs mostly in girls
iii. Microcephaly, scoliosis, learning disabilities

34
Q

CML

A

i. Chromosomal translocation results in oncogenesis

ii. Fused BCR-ABL protein

35
Q

Hurlers

A

AR, mucopolysacc disorder

36
Q

Myopia

A

most common ocular feature of Marfans, displacement of lens, 60% of affected individuals

37
Q

Dx of Marfans w/ and w/o Family Hx

A

w/ Hx - 1 system involved major, 1 system involved minor

w/o Hx - 2 systems involved major, 1 system involved minor

38
Q

Prevalence/recurrence of congenital malformations

A

2% newborns have congenital malformations that are multifactoral, recurrence risk is 1-5%

39
Q

Polygenic vs multifactorial trains

A

polygenic - multiple genes at different loci, excludes environmental effects
multifact - takes environment and stochastic events into account with multi genes at different loci

40
Q

Liability and threshold

A

phenotype does not develop unless the individual crosses threshold through cumulative effects of genetic, environmental and stochastic components

41
Q

Multifactorial disease affecting 1st degree relatives

A

no more that 5-10%, cant be determined genetically, use empirical risk based on population

42
Q

Recurrence risk for multifactorial

A

1) decreased with more distantly related relatives
2) higher if more than one family member is affected
3) higher depending on severity of proband
4) if gender isnt equal, offspring of less frequently affected gender has higher recurrence

43
Q

Genocopy v phenocopy

A

genocopy is different genes make similar phenotypes, but arent the same (not locus hetero)
phenocopy is environment makes similar phenotype to genetic mutation

44
Q

Restriction point

A

G1

45
Q

CDK (MPF)

A

arrests oocytes in G2 until hormonal stimulation triggers entry into M phase

46
Q

Cdc28/Cdc2

A

protein kinase

47
Q

What does MPF contain

A

cyclin B - regulatory subunit
protein kinase cdc2 as catalytic subunit
terms Cdk together

48
Q

Wee1 protein kinase

A

inhibitory P of tyr and thr near NH3 terminus of cyclin B-cdc2

49
Q

Cdc25 phosphatase

A

activating dephosphorylation of cyclin B-cdc2, which goes on to phos other things

50
Q

When does cyclin B synthesis start? What happens to it in the end?

A

S phase, degraded by action of cdc2 in ubiqi-med-protease

51
Q

Cip/Kip

A

tumor suppressor genes (p21, 27, 57), promiscuous binding, Cdk4/cycD, 6/D, 2/D, 2/A

52
Q

Ink4

A

tumor suppressor genes (p15, 16, 18, 19), more specific, Cdk4/D, 6/D

53
Q

G1 checkpoint

A

DNA damage, p53 makes p21 when DNA damage occurs, p21is cip/kip and inhibits many cdk/cyclin complexes (Cdk2/cyclinE), arrested in G1

54
Q

G2 checkpoint

A

DNA damage, Chk1 phosphorylates Cdc25, so doesnt dephos/activate Cdc2/cyclinB, arrested in G2

55
Q

TGFb

A

induced by CKI p15 (Ink4) binds Cdk4,6/D arrests cell in G1

56
Q

Cyclin D syn.

A

induced by Ras/Raf/ERK, cyclin D phosphorylates Rb, which removes it from binding EF2 so cell cycle can progress to transcription

57
Q

tumor suppressor genes

A

recessive, 2-hit model

58
Q

Retinoblastoma

A

del. of 13q, sporadic (AA) vs familial (Aa)

59
Q

Gate keepers

A

genes that directly control cellular growth/dif, Ex: p53, Rb, p16Ink4

60
Q

Caretakers

A

DNA repair, cell cycle checkpoints, Ex: BRCA1/2

61
Q

Li-Fraumeni syndrome

A

germline mutation in p53, develop cancer, onset of 30

62
Q

Tumor initiator vs promotor

A

initiator - chemical that alters structure of DNA

promoter - chemical doesnt alter structure, but promotes cell division

63
Q

Burkitt’s lymphoma

A

balanced translocation of c-myc gene adjacent to Ig heavy chain, leads to over expression of c-myc

64
Q

Chronic myelogenous leukemia

A

translocation where bcr fused with abl, results in chimeric protein

65
Q

ret oncogene

A

one exception to oncogenes not be inherited, this gene is inherited

66
Q

Familial adenomatous polyposis

A

80% carry APC gene mutation in germline

Medical Genetics (2 decks)

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